PEX16 (peroxisomal biogenesis factor 16)

2014-11-01  

Identity

HGNC
PEX16
LOCATION
11p11.2
LOCUSID
9409
ALIAS
PBD8A,PBD8B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9409
MIM: 603360
HGNC: 8857
Ensembl: ENSG00000121680

Variants:

dbSNP: 9409
ClinVar: 9409
TCGA: ENSG00000121680
COSMIC: PEX16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121680ENST00000241041Q9Y5Y5
ENSG00000121680ENST00000378750Q9Y5Y5
ENSG00000121680ENST00000525192E9PLS4
ENSG00000121680ENST00000525229E9PMS3
ENSG00000121680ENST00000528674E9PSC6
ENSG00000121680ENST00000529030E9PQW0
ENSG00000121680ENST00000532681E9PP98
ENSG00000121680ENST00000533151E9PMM3

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
167171272006The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER.112
217683842011Sec16B is involved in the endoplasmic reticulum export of the peroxisomal membrane biogenesis factor peroxin 16 (Pex16) in mammalian cells.31
206475522010Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.24
122234822002The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly.18
250024032014PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER.18
118906792002A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.2

Citation

Dessen P

PEX16 (peroxisomal biogenesis factor 16)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71838/pex16